Mutagenetix > Incidental Mutation

Incidental Mutation 'R5916:Ano3'

461307

Institutional Source

Beutler Lab

Gene Symbol

Ano3

Ensembl Gene

ENSMUSG00000074968

Gene Name

anoctamin 3

Synonyms

B230324K02Rik, Tmem16c

MMRRC Submission

044113-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R5916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110485546-110780854 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110512181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 674 (F674L)

Ref Sequence

ENSEMBL: ENSMUSP00000097219 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099623]

AlphaFold

A2AHL1

Predicted Effect

probably benign
Transcript: ENSMUST00000099623
AA Change: F674L

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000097219
Gene: ENSMUSG00000074968
AA Change: F674L

Domain	Start	End	E-Value	Type
Pfam:Anoct_dimer	156	381	2.9e-70	PFAM
Pfam:Anoctamin	384	950	4.4e-138	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 97.2%
20x: 92.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	T	4: 144,349,550 (GRCm39)	N269I	possibly damaging	Het
Abcc1	G	T	16: 14,283,006 (GRCm39)	V1161F	possibly damaging	Het
Adam3	A	T	8: 25,174,555 (GRCm39)		probably null	Het
Agt	A	T	8: 125,290,597 (GRCm39)	S237T	possibly damaging	Het
Asb2	G	T	12: 103,290,135 (GRCm39)	A504E	probably damaging	Het
Atp13a1	T	A	8: 70,259,748 (GRCm39)	I1113N	probably damaging	Het
Atxn7l2	T	C	3: 108,112,978 (GRCm39)		probably null	Het
Bambi	A	G	18: 3,511,463 (GRCm39)	T95A	probably benign	Het
Cfap210	A	T	2: 69,619,806 (GRCm39)	M1K	probably null	Het
Clrn1	T	C	3: 58,753,783 (GRCm39)	T193A	probably benign	Het
Colgalt2	T	A	1: 152,379,873 (GRCm39)	D437E	probably damaging	Het
Dchs1	C	A	7: 105,408,373 (GRCm39)	A1820S	probably damaging	Het
Dnah12	T	A	14: 26,428,073 (GRCm39)	I233N	possibly damaging	Het
Dsc3	T	C	18: 20,120,077 (GRCm39)	N194D	probably damaging	Het
Dync2h1	A	G	9: 7,102,309 (GRCm39)		probably null	Het
Erich3	A	T	3: 154,401,460 (GRCm39)	R36S	probably damaging	Het
Fam243	T	A	16: 92,117,559 (GRCm39)	E243V	probably damaging	Het
Fmnl3	A	T	15: 99,219,709 (GRCm39)	C680S	probably damaging	Het
Focad	T	C	4: 88,275,778 (GRCm39)	L1129P	unknown	Het
Fzd3	G	A	14: 65,440,178 (GRCm39)	T664I	probably benign	Het
Glb1l3	T	C	9: 26,766,032 (GRCm39)	I129V	probably benign	Het
Heatr1	T	C	13: 12,449,352 (GRCm39)	F1950S	probably damaging	Het
Herc6	G	A	6: 57,623,188 (GRCm39)	G597E	probably benign	Het
Hmcn2	T	A	2: 31,286,151 (GRCm39)	V2101D	probably damaging	Het
Il17re	T	A	6: 113,447,084 (GRCm39)	C612S	probably damaging	Het
Il36g	T	G	2: 24,082,806 (GRCm39)	*194E	probably null	Het
Junb	T	C	8: 85,704,505 (GRCm39)	Y185C	probably benign	Het
Lrriq1	G	A	10: 103,057,243 (GRCm39)	Q186*	probably null	Het
Lrrn2	T	A	1: 132,865,538 (GRCm39)	V201E	probably damaging	Het
Ly6l	A	T	15: 75,323,027 (GRCm39)	T68S	probably benign	Het
Marchf1	G	T	8: 66,839,763 (GRCm39)	R182L	possibly damaging	Het
Megf6	A	G	4: 154,333,882 (GRCm39)		probably null	Het
Mga	T	A	2: 119,794,793 (GRCm39)	S2708T	probably benign	Het
Mx1	T	C	16: 97,252,933 (GRCm39)	T396A	probably benign	Het
Naip5	A	C	13: 100,359,209 (GRCm39)	S676A	probably benign	Het
Npepl1	G	T	2: 173,963,337 (GRCm39)	W456C	probably benign	Het
Ntrk2	A	G	13: 58,956,543 (GRCm39)	M1V	probably null	Het
Nufip1	T	C	14: 76,372,340 (GRCm39)	*485Q	probably null	Het
Ocln	T	G	13: 100,642,687 (GRCm39)	D216A	possibly damaging	Het
Or10x1	A	T	1: 174,196,698 (GRCm39)	T72S	probably damaging	Het
Or1o11	C	T	17: 37,756,570 (GRCm39)	L53F	probably benign	Het
Or4f57	A	G	2: 111,791,175 (GRCm39)	M81T	probably damaging	Het
Or55b4	G	A	7: 102,133,586 (GRCm39)	S247F	probably damaging	Het
Ptprq	A	T	10: 107,359,374 (GRCm39)	M2243K	probably damaging	Het
Rad51b	C	T	12: 79,371,856 (GRCm39)	Q190*	probably null	Het
Resf1	C	T	6: 149,228,076 (GRCm39)	T374I	probably damaging	Het
Rfx8	T	C	1: 39,727,779 (GRCm39)	Y182C	probably benign	Het
Rpgrip1l	C	A	8: 91,979,541 (GRCm39)	R967L	possibly damaging	Het
Scube2	A	G	7: 109,430,931 (GRCm39)	Y423H	possibly damaging	Het
Sipa1l2	A	T	8: 126,195,312 (GRCm39)	Y809N	probably damaging	Het
Slc35f1	C	A	10: 52,809,317 (GRCm39)	Y101*	probably null	Het
Tbc1d22a	A	G	15: 86,098,809 (GRCm39)	K12E	possibly damaging	Het
Tent2	T	C	13: 93,312,055 (GRCm39)	D215G	probably damaging	Het
Tmcc2	C	T	1: 132,285,429 (GRCm39)	V646M	probably damaging	Het
Tpp1	A	T	7: 105,398,587 (GRCm39)	M243K	probably damaging	Het
Trappc12	A	G	12: 28,741,513 (GRCm39)	L732P	probably damaging	Het
U2af2	A	T	7: 5,082,179 (GRCm39)		probably null	Het
Utrn	T	A	10: 12,540,795 (GRCm39)	N1877Y	probably damaging	Het
Vsir	C	T	10: 60,193,816 (GRCm39)	T93I	probably damaging	Het
Zkscan5	T	A	5: 145,142,112 (GRCm39)	M3K	possibly damaging	Het
Zscan29	G	T	2: 120,994,518 (GRCm39)	T489N	probably damaging	Het

Other mutations in Ano3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Ano3	APN	2	110,601,395 (GRCm39)	splice site	probably benign
IGL01066:Ano3	APN	2	110,491,790 (GRCm39)	missense	probably null	0.00
IGL01696:Ano3	APN	2	110,498,082 (GRCm39)	missense	probably damaging	1.00
IGL01729:Ano3	APN	2	110,611,739 (GRCm39)	splice site	probably null
IGL01785:Ano3	APN	2	110,513,060 (GRCm39)	missense	probably damaging	1.00
IGL01786:Ano3	APN	2	110,513,060 (GRCm39)	missense	probably damaging	1.00
IGL01992:Ano3	APN	2	110,488,564 (GRCm39)	missense	probably damaging	1.00
IGL02098:Ano3	APN	2	110,496,786 (GRCm39)	nonsense	probably null
IGL02333:Ano3	APN	2	110,527,544 (GRCm39)	splice site	probably benign
IGL02346:Ano3	APN	2	110,601,271 (GRCm39)	splice site	probably benign
IGL02352:Ano3	APN	2	110,715,288 (GRCm39)	nonsense	probably null
IGL02359:Ano3	APN	2	110,715,288 (GRCm39)	nonsense	probably null
IGL02544:Ano3	APN	2	110,488,594 (GRCm39)	missense	possibly damaging	0.79
IGL02750:Ano3	APN	2	110,496,329 (GRCm39)	splice site	probably benign
IGL02861:Ano3	APN	2	110,569,157 (GRCm39)	missense	probably damaging	1.00
IGL02948:Ano3	APN	2	110,527,363 (GRCm39)	splice site	probably benign
IGL03327:Ano3	APN	2	110,527,523 (GRCm39)	missense	possibly damaging	0.62
3-1:Ano3	UTSW	2	110,527,469 (GRCm39)	missense	probably damaging	1.00
IGL02988:Ano3	UTSW	2	110,605,355 (GRCm39)	missense	probably damaging	1.00
IGL03147:Ano3	UTSW	2	110,527,763 (GRCm39)	missense	probably damaging	1.00
R0349:Ano3	UTSW	2	110,491,832 (GRCm39)	missense	probably damaging	1.00
R0426:Ano3	UTSW	2	110,491,519 (GRCm39)	missense	probably damaging	1.00
R0523:Ano3	UTSW	2	110,715,200 (GRCm39)	missense	probably benign	0.13
R0557:Ano3	UTSW	2	110,693,297 (GRCm39)	splice site	probably null
R0611:Ano3	UTSW	2	110,715,346 (GRCm39)	missense	possibly damaging	0.93
R0891:Ano3	UTSW	2	110,528,321 (GRCm39)	missense	probably benign	0.03
R1459:Ano3	UTSW	2	110,711,174 (GRCm39)	missense	probably benign	0.00
R1460:Ano3	UTSW	2	110,513,103 (GRCm39)	missense	probably damaging	0.97
R1773:Ano3	UTSW	2	110,591,800 (GRCm39)	missense	probably damaging	1.00
R1874:Ano3	UTSW	2	110,715,217 (GRCm39)	missense	probably benign	0.00
R1919:Ano3	UTSW	2	110,715,352 (GRCm39)	missense	probably benign
R2185:Ano3	UTSW	2	110,605,390 (GRCm39)	missense	probably benign	0.01
R2280:Ano3	UTSW	2	110,513,104 (GRCm39)	missense	probably benign	0.22
R2281:Ano3	UTSW	2	110,513,104 (GRCm39)	missense	probably benign	0.22
R2348:Ano3	UTSW	2	110,614,088 (GRCm39)	missense	possibly damaging	0.82
R2425:Ano3	UTSW	2	110,693,188 (GRCm39)	missense	probably benign
R2697:Ano3	UTSW	2	110,625,305 (GRCm39)	missense	possibly damaging	0.79
R3888:Ano3	UTSW	2	110,715,345 (GRCm39)	missense	probably damaging	0.99
R3923:Ano3	UTSW	2	110,601,304 (GRCm39)	missense	probably damaging	1.00
R4352:Ano3	UTSW	2	110,576,239 (GRCm39)	missense	possibly damaging	0.74
R4447:Ano3	UTSW	2	110,591,923 (GRCm39)	splice site	probably null
R4790:Ano3	UTSW	2	110,715,264 (GRCm39)	missense	probably benign
R4832:Ano3	UTSW	2	110,498,067 (GRCm39)	missense	probably damaging	1.00
R4916:Ano3	UTSW	2	110,601,365 (GRCm39)	missense	possibly damaging	0.74
R5113:Ano3	UTSW	2	110,491,825 (GRCm39)	missense	possibly damaging	0.61
R5486:Ano3	UTSW	2	110,576,215 (GRCm39)	missense	probably damaging	1.00
R5498:Ano3	UTSW	2	110,527,448 (GRCm39)	missense	possibly damaging	0.68
R5589:Ano3	UTSW	2	110,715,340 (GRCm39)	missense	probably damaging	0.99
R5627:Ano3	UTSW	2	110,587,298 (GRCm39)	missense	possibly damaging	0.61
R5741:Ano3	UTSW	2	110,488,618 (GRCm39)	missense	probably benign	0.11
R5767:Ano3	UTSW	2	110,491,616 (GRCm39)	missense	probably damaging	1.00
R5883:Ano3	UTSW	2	110,711,209 (GRCm39)	missense	probably null	0.15
R5899:Ano3	UTSW	2	110,693,232 (GRCm39)	missense	probably benign	0.39
R6158:Ano3	UTSW	2	110,496,220 (GRCm39)	missense	probably damaging	1.00
R6315:Ano3	UTSW	2	110,527,384 (GRCm39)	missense	probably damaging	1.00
R6401:Ano3	UTSW	2	110,605,459 (GRCm39)	missense	probably benign	0.01
R6481:Ano3	UTSW	2	110,625,372 (GRCm39)	missense	probably benign	0.16
R6482:Ano3	UTSW	2	110,527,400 (GRCm39)	missense	probably damaging	1.00
R6587:Ano3	UTSW	2	110,628,249 (GRCm39)	splice site	probably null
R6811:Ano3	UTSW	2	110,711,212 (GRCm39)	missense	probably benign	0.03
R7048:Ano3	UTSW	2	110,513,116 (GRCm39)	nonsense	probably null
R7145:Ano3	UTSW	2	110,693,205 (GRCm39)	missense	probably benign	0.31
R7207:Ano3	UTSW	2	110,611,768 (GRCm39)	missense	probably damaging	0.96
R7215:Ano3	UTSW	2	110,496,277 (GRCm39)	missense	probably damaging	1.00
R7366:Ano3	UTSW	2	110,587,412 (GRCm39)	missense	probably damaging	1.00
R7371:Ano3	UTSW	2	110,715,194 (GRCm39)	critical splice donor site	probably null
R7568:Ano3	UTSW	2	110,780,638 (GRCm39)	start gained	probably benign
R7636:Ano3	UTSW	2	110,513,048 (GRCm39)	nonsense	probably null
R7888:Ano3	UTSW	2	110,496,773 (GRCm39)	missense	probably damaging	1.00
R7992:Ano3	UTSW	2	110,605,367 (GRCm39)	missense	possibly damaging	0.77
R8024:Ano3	UTSW	2	110,498,128 (GRCm39)	missense	probably damaging	0.99
R8074:Ano3	UTSW	2	110,780,577 (GRCm39)	start gained	probably benign
R8111:Ano3	UTSW	2	110,614,058 (GRCm39)	missense	possibly damaging	0.95
R8177:Ano3	UTSW	2	110,496,801 (GRCm39)	missense	probably damaging	1.00
R8297:Ano3	UTSW	2	110,491,616 (GRCm39)	missense	probably damaging	1.00
R8485:Ano3	UTSW	2	110,498,200 (GRCm39)	critical splice acceptor site	probably null
R8509:Ano3	UTSW	2	110,496,180 (GRCm39)	missense	possibly damaging	0.50
R8870:Ano3	UTSW	2	110,614,074 (GRCm39)	missense	probably benign	0.12
R9071:Ano3	UTSW	2	110,625,418 (GRCm39)	critical splice acceptor site	probably null
R9072:Ano3	UTSW	2	110,576,243 (GRCm39)	missense	probably benign	0.06
R9073:Ano3	UTSW	2	110,576,243 (GRCm39)	missense	probably benign	0.06
R9315:Ano3	UTSW	2	110,528,287 (GRCm39)	missense	probably damaging	0.97
R9376:Ano3	UTSW	2	110,496,782 (GRCm39)	missense	probably damaging	1.00
R9588:Ano3	UTSW	2	110,528,342 (GRCm39)	missense	possibly damaging	0.91
R9697:Ano3	UTSW	2	110,496,253 (GRCm39)	missense	probably damaging	1.00
R9716:Ano3	UTSW	2	110,601,376 (GRCm39)	missense	probably damaging	0.97
R9748:Ano3	UTSW	2	110,488,640 (GRCm39)	missense	probably damaging	1.00
RF012:Ano3	UTSW	2	110,527,868 (GRCm39)	missense	possibly damaging	0.83
RF013:Ano3	UTSW	2	110,527,381 (GRCm39)	missense	probably benign	0.30
X0058:Ano3	UTSW	2	110,527,763 (GRCm39)	missense	probably damaging	1.00
Z1088:Ano3	UTSW	2	110,576,192 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTCCTTCCATTTTGAACAGAGC -3'
(R):5'- CATTGGGACTGAGTTCATATATCAC -3'

Sequencing Primer
(F):5'- TTGAACAGAGCAACCTTTTCTC -3'
(R):5'- GGACTGAGTTCATATATCACTTTCTC -3'

Posted On

2017-02-28